chr1:156138697:C>T Detail (hg38) (LMNA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:156,108,488-156,108,488 View the variant detail on this assembly version.
hg38	chr1:156,138,697-156,138,697

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1818+90C>T
	NM_170707.3:c.1908C>T	NP_733821.1:p.Ser636=
	NM_001257374.2:c.1572C>T	NP_001244303.1:p.Ser524=
Ensemble	ENST00000361308.9:c.1908C>T	ENST00000361308.9:p.Ser636=
	ENST00000368299.7:c.1818+90C>T
	ENST00000368300.9:c.1908C>T	ENST00000368300.9:p.Ser636=
	ENST00000448611.6:c.1572C>T	ENST00000448611.6:p.Ser524=
	ENST00000473598.6:c.1611C>T	ENST00000473598.6:p.Ser537=
	ENST00000504687.7:c.1350C>T	ENST00000504687.7:p.Ser450=
	ENST00000675667.1:c.1908C>T	ENST00000675667.1:p.Ser636=
	ENST00000675939.1:c.1908C>T	ENST00000675939.1:p.Ser636=
	ENST00000676385.2:c.1818C>T	ENST00000676385.2:p.Ser606=
	ENST00000682650.1:c.1818C>T	ENST00000682650.1:p.Ser606=
	ENST00000683032.1:c.1908C>T	ENST00000683032.1:p.Ser636=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

LMNA

Type	Database	ID	Link
Gene	MIM	150330	OMIM
	HGNC	6636	HGNC
	Ensembl	ENSG00000160789	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail
Likely benign	2022-08-16	criteria provided, single submitter		germline	Detail
Likely benign	2023-10-09	criteria provided, single submitter	cardiomyopathy	germline	Detail
Likely benign	2024-01-23	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Charcot-Marie-Tooth disease	NA	CLINVAR		Detail
<0.001	Vascular Diseases	Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diab...	BeFree	16117820	Detail
0.004	obesity	The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidae...	BeFree	16117820	Detail
0.007	atherosclerosis	The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidae...	BeFree	16117820	Detail
<0.001	Diabetic Nephropathy	Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diab...	BeFree	16117820	Detail
0.002	Dyslipidemias	The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidae...	BeFree	16117820	Detail
0.015	Diabetes Mellitus, Non-Insulin-Dependent	Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diab...	BeFree	16117820	Detail
0.082	arteriosclerosis	The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidae...	BeFree	16117820	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NA	DisGeNET	Detail
Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in ...	DisGeNET	Detail
The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndr...	DisGeNET	Detail
The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndr...	DisGeNET	Detail
Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in ...	DisGeNET	Detail
The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndr...	DisGeNET	Detail
Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in ...	DisGeNET	Detail
The LMNA 1908C/T polymorphism has been reported to be associated with dyslipidaemia, metabolic syndr...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs80356814 dbSNP
Genome: hg38
Position: chr1:156,138,697-156,138,697
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8534
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1717834544176236E-4
Chromosome Counts in All Race (ExAC): 115990
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.621432882145012E-6

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